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Springer Nature [academic journals on nature.com], European Journal of Human Genetics, 5(22), p. 714-714, 2014

DOI: 10.1038/ejhg.2014.55

Springer Nature [academic journals on nature.com], European Journal of Human Genetics, 5(22), p. 580-586, 2013

DOI: 10.1038/ejhg.2013.205

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Offering prenatal diagnostic tests: European guidelines for clinical practice

Journal article published in 2013 by Heather Skirton, Lesley Goldsmith, Leigh Jackson, Celine Lewis, Lyn Chitty ORCID
This paper is made freely available by the publisher.
This paper is made freely available by the publisher.

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Abstract

For over four decades, it has been possible to offer prenatal diagnostic testing for fetal abnormalities. Prenatal testing is now available for a wide range of monogenic disorders as well as chromosomal abnormalities and should be provided within the ethical framework of informed consent and autonomous choice. However, there are no published guidelines for health professionals from varied disciplines who offer prenatal diagnosis (PND) in a range of possible settings including departments of maternity, obstetrics and clinical genetics. We used an Expert Group technique to develop a set of guidelines for provision of prenatal diagnostic services. Thirteen European health professionals, all experts in PND, participated in a workshop to develop the guidelines, which were then subjected to a wide consultation process. The objective of PND was defined as providing prenatal diagnostic testing services (for genetic conditions) that enable families to make informed choices consistent with their individual needs and values and which support them in dealing with the outcome of such testing. General principles, logistical considerations, clinical care and counselling topics are all described and are equally applicable to invasive and non-invasive testing. These guidelines provide a framework for ethical clinical care; however, they are flexible enough to enable practitioners to adapt them to their particular setting. Ideally, an individualised approach to each family is required to ensure autonomous choice and informed consent regarding prenatal diagnostic testing within the local ethical and legal framework.European Journal of Human Genetics advance online publication, 11 September 2013; doi:10.1038/ejhg.2013.205.